ERI3

Chr 1

ERI1 exoribonuclease family member 3

Also known as: PINT1, PRNPIP

NCBI Gene: 79033 ENSG00000117419 UniProt: O43414 OMIM: 609917

ERI3 encodes a protein that binds RNA and has low constraint against loss-of-function variants (LOEUF 0.745). Currently, no well-established human diseases have been definitively linked to ERI3 mutations in the medical literature.

OMIM ResearchSummary from RefSeq

Enables RNA binding activity. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.74

Clinical Summary— ERI3

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

23 VUS of 37 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.74LOEUF

pLI 0.004

Z-score 2.35

OE 0.40 (0.22–0.74)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

2.20Z-score

OE missense 0.55 (0.46–0.64)

102 obs / 186.7 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.40 (0.22–0.74)

0≤0.351.4

Missense OE?0.55 (0.46–0.64)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 7 / 17.7Missense obs/exp: 102 / 186.7Syn Z: -0.03

ClinVar Variant Classifications

37 submitted variants in ClinVar

ClinVar

Classification Summary

VUS23

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	23	23
Likely Benign	0	0
Benign	0	0
Total	23	23

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 18) ClinVar copy-number / structural variants overlap ERI3 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →